The ocular manifestations in Fabry's disease
N. A. Sher, R. D. Letson and R. J. Desnick
We present the ocular manifestations in a series of 37 hemizygous male and
25 heterozygous female patients with Fabry's disease. The ocular findings
typically do not impair vision, but are unique and diagnostic. Whorl-like
corneal deposits were seen in almost all patients and were more severe in
the heterozygotes. The lens showed cream-colored anterior capsular
deposits, sometimes in striking "propeller" distribution, in one third of
the hemizygotes, and in none of the heterozygotes. A faint but unique
posterior capsular opacity with a branching radial pattern was seen in 37%
of the hemizygotes and 14% of the heterozygotes. Conjunctival vessel
aneurysmal dilations and retinal vessel tortuosity were both more frequent
and severe in the hemizygotes. Severe visual loss occurred in two
hemizygotes as a result of unilateral total central artery occlusions.
